Intraventricular rhabdoid tumor

Malignant rhabdoid tumor (MRT) most commonly occurs in kidney. In the central nervous system, cerebellum is the most common site of occurrence. CNS rhabdoid tumors typically occur in small children, do not respond favorably to treatment and are usually fatal within 1-year. Here is reported a 4-year-old child who presented with features of raised intracranial pressure. Apart from papillodema, there were no neurological signs. Imaging revealed a left lateral ventricular heterogeneous mass abutting the foramen of monro, with mild irregular contrast enhancement and hydrocephalus. the child underwent right ventriculo-peritoneal shunt followed by craniotomy and gross total tumor resection. He was discharged 10-days after surgery without any neurological deficits. Histopathology revealed features compatible with rhabdoid tumor. Despite radiotherapy and chemotherapy, the child died of progressive disease 10-months after surgery. the highly malignant nature of this tumor makes early diagnosis essential for aggressive management and prognostication.     

Extrarenal rhabdoid sarcoma

Rhabdoid sarcoma is a tumor of unknown etiology that usually occurs in the kidneys of infants and small children. We report an adolescent with a rhabdoid sarcoma of the chest wall, In addition to the patient's age and the site of the tumor, other unusual features of this case were as follows: positive staining of tumor cells with neuron-specific enolase, the presence of chronic, active, hepatitis that apparently developed coincident with the sar coma, and the presence of widespread hemosiderosis. Two of the patient's siblings died in infancy with degenerative neurologic disease, hepatomegaly, and multiple congenital anomalies. The histochemical findings and family history lend support to previous suggestions that some rhabdoid sarcomas may be of neural crest origin and may be heritable lesions.     

Extrarenal rhabdoid sarcoma

Rhabdoid sarcoma is a tumor of unknown etiology that usually occurs in the kidneys of infants and small children. We report an adolescent with a rhabdoid sarcoma of the chest wall. In addition to the patient's age and the site of the tumor, other unusual features of this case were as follows: positive staining of tumor cells with neuron-specific enolase, the presence of chronic, active, hepatitis that apparently developed coincident with the sarcoma, and the presence of widespread hemosiderosis. Two of the patient's siblings died in infancy with degenerative neurologic disease, hepatomegaly, and multiple congenital anomalies. The histochemical findings and family history lend support to previous suggestions that some rhabdoid sarcomas may be of neural crest origin and may be heritable lesions.     

Congenital malignant rhabdoid tumour of the skin

A case of congenital extra-renal rhabdoid tunour is described. Renal involvement was documented late in the course of the illness. Pertinent clinical information concerning paediatric rhabdoid tumours is reviewed. The aggressive and malignant nature of this disease is confirmed.     

Non-linkage of familial rhabdoid tumors to SMARCB1 implies a second locus for the rhabdoid tumor predisposition syndrome

BACKGROUND: Rhabdoid tumors represent an independent entity among embryonal neoplasms. These tumors affect the kidney (RTK, rhabdoid tumor of kidney) and central nervous system (AT/RT, atypical teratoid, rhabdoid tumor), but may also be found in peripheral soft tissue. Unifying features include immunohistochemical characteristics and inactivation of the putative tumor suppressor gene SMARCB1 (hSNF5/INI1) in chromosome 22q11.2. Several familial cases have been published and summarized under the term rhabdoid tumor predisposition syndrome. In all of the published familial cases, inactivation of SMARCB1 was detected in tumor tissues. PROCEDURE AND RESULTS: We report on a family with three children, two of which were affected by rhabdoid tumors, one RTK, the other an AT/RT. While both children demonstrated typical morphological and clinical features neither the RTK nor the AT/RT showed evidence for inactivation of SMARCB1 in molecular studies including CGH and array CGH, FISH, gene dosage analysis by dHPLC, and DNA-sequencing. Immunohistochemistry for SMARCB1 showed normal expression within the nuclei of tumor cells. Furthermore, both children inherited different paternal and maternal SMARCB1 alleles evidenced by haplotype analysis. Conventional cytogenetic, FISH, and mutation analyses lacked evidence for SMARCB1 aberrations or gross chromosomal changes in the parents. CONCLUSIONS: We thus demonstrate a family with rhabdoid tumor predisposition syndrome without linkage to SMARCB1. This finding indicates that other loci than SMARCB1 below the resolution of array CGH are involved in the origin of these tumors. Our data impact on the clinical counseling of affected families and warrant further studies in the molecular biology of these enigmatic tumors.     

Neuroblastoma mimicking rhabdoid tumor of the kidney

Rhabdoid tumor of the kidney (RTK) has mimicked other renal tumors histologically, but there has been only one previous report of neuroblastoma mimicking RTK. The authors present the case of a 17-month-old boy who presented with a large left renal mass that was diagnosed as RTK. At the completion of therapy he was found to have residual masses. They were biopsied and found to be viable neuroblastoma.     

Adenovirus necrotizing hepatitis complicating atypical teratoid rhabdoid tumor

Adenovirus‐induced fulminant hepatitis is rare. It has been reported in children with primary immunodeficiency, following transplantation or while receiving chemotherapy for hematological malignancy. We present the case of an infant recovering from chemotherapy for atypical teratoid rhabdoid tumor (ATRT) in whom a diagnosis of hepatic necrosis due to adenovirus was made.     

Congenital extrarenal non-central nervous system malignant rhabdoid tumor

Malignant rhabdoid tumor (MRT) is a rare tumor occurring mostly in kidneys and central nervous system (CNS). Its prognosis is not good. Occasionally, MRTs are diagnosed at or immediately after birth. A female neonate presented with MRT in the chest wall, axilla, right elbow, and bone marrow. Chest wall lesion was resected completely. Although the masses in axilla and bone marrow responded rapidly to chemotherapy, the elbow lesion increased in size. Despite intense treatment, the tumor relapsed in lungs and the patient died 12 months after diagnosis. Review of the literature showed twenty additional congenital MRTs arising from sites outside of the kidney and central nervous system were published in the literature. Eighteen patients had disseminated disease at diagnosis. The median overall survival time for all (n = 21) patients was 2.0 months (0-24 months). The only patient who survived had a localized tumor at initial diagnosis. Congenital, extrarenal, non-CNS MRTs are aggressive tumors with poor outcome.     

Treatment of metastatic rhabdoid tumor of the kidney

Metastatic rhabdoid tumor of the kidney (RTK) is a highly lethal malignancy; only one survivor with stage 4 disease has been reported. The authors reviewed the cases of two patients with metastatic RTK who had excellent responses to therapy. Both patients were treated with radiation therapy and alternating courses of ifosfamide, carboplatin, and etoposide (ICE) and vincristine, doxorubicin, and cyclophosphamide (VDC). The patients are without evidence of disease at 24 months and 12 months from the detection of metastasis. Alternating courses of ICE and VDC have activity against metastatic RTK. This combination of agents warrants prospective investigation in clinical trials.     

Successful management of rhabdoid tumor of the liver

A 3-year-old male was referred because of fever, abdominal pain, and enlarged abdomen. Magnetic resonance imaging showed a very large lobulated mass involving predominantly the right lobe of liver. Tumor histology was consistent with rhabdoid tumor of the liver. The patient received 3 cycles of chemotherapy consisting of ifosfamide, carboplatin, and etoposide alternating with vincristine, adriamycin, and cyclophosphamide, at 3-week intervals. Follow-up magnetic resonance imaging revealed approximately 84% decrease in size of tumor after 2 cycles of chemotherapy. Patient underwent liver transplantation, as the tumor was unresectable. Six weeks posttransplant, the patient received 4 more cycles of chemotherapy. The patient is free of disease at evaluation 3 years posttransplant.     

Atypical teratoid/rhabdoid tumor mimicking tuberculous meningitis

Atypical teratoid/rhabdoid tumor of the central nervous system is a highly malignant neoplasm in infants and young children. We report a 6 year-old girl with atypical teratoid/rhabdoid tumor. Based on cerebrospinal fluid examination MRI scan and family history of tuberculosis; we diagnosed tuberculous meningitis. There was inadequate response to the antituberculosis therapy; so we performed stereotactic brain biopsy. Pathologic result revealed high grade atypical teratoid/rhabdoid tumor.     

Clinical presentation of rhabdoid tumors of the kidney

PURPOSE: We designed this study to differentiate the clinical presentation, particularly the incidence of hematuria, of a rhabdoid tumor of the kidney (RTK), a rare but highly malignant tumor, from a Wilms tumor. PATIENTS AND METHODS: We reviewed patient flow charts from the National Wilms Tumor Study Group and queried participating hospitals to obtain additional information regarding presenting symptoms and laboratory data for fifty patients. Patient ages ranged from 2 days to 3.5 years with a mean of 11 months. We documented the presence of gross and microscopic hematuria, fever, and hypercalcemia. RESULTS: Whereas 75% of children with rhabdoid tumor of the kidney (RTK) had stage III (44%), IV (27%), or V (4%) tumors, 67% of children with Wilms tumors had stage I (41%) or II (26%) tumors. Either gross or microscopic hematuria was present in 84.4% (27/32) of the patients with RTK. Gross hematuria was present in 59% (22/37) of children with RTK compared with 18% previously reported with Wilms tumor. Microscopic hematuria was present in 76% (22/29) of children with RTK compared with 24% previously reported with Wilms tumor. Fever was found in 44% (16/36) of children with RTK, compared with 22% of children previously reported with Wilms tumor. Hypercalcemia was seen 26% (6/23) of children with RTK. CONCLUSION: Although diagnosis of any renal mass still must be confirmed with histopathologic features, a distinct clinical presentation with fever, hematuria, a young age, and high-tumor stage at presentation suggests the diagnosis of RTK.